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Background: Structural abnormalities that involve chromosome 18 are rare cytogenetic rearrangements, and the most frequent are deletions, isochromosomes and ring chromosomes. Material and methods: We present clinical and cytogenetic findings in our three patients (two females and one male) with structural abnormalities of chromosome 18. Results: GTG banding karyotype analysis revealed two cases with isochromosome 18q, 46,XX,i(18q), and one case with a distal deletion of 18q, 46,XX,del(18)(q21). Microcephaly, dysmorphic features (broad or flat nasal bridge, hypertelorism, cleft lip and palate), growth deficiency, developmental delay, minor anomalies, congenital heart defects and renal malformations are a few of the commonest features observed in our patients. Genotype-phenotype correlations are made. Conclusions: This report enhances the importance of cytogenetic analysis of patients with any suspicion of a chromosomal anomaly. [ABSTRACT FROM AUTHOR]